Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	84131
Gene name	Centrosomal protein 78
Gene symbol	CEP78
Synonyms (NCBI Gene)	C9orf81CRDHLIP63
Chromosome	9
Chromosome location	9q21.2
Summary	This gene encodes a centrosomal protein that is both required for the regulation of centrosome-related events during the cell cycle, and required for ciliogenesis. The encoded protein has an N-terminal leucine-rich repeat (LRR) domain with six consecutive

Show/Hide all (9)

SNP ID	Visualize variation	Clinical significance	Consequence
rs745750156	G>A	Pathogenic	Intron variant
rs1014151821	A>G	Likely-pathogenic	Intron variant, splice acceptor variant
rs1057517691	G>T	Pathogenic	Splice donor variant
rs1057517692	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057517693	G>A	Pathogenic	Intron variant
rs1057517694	G>A	Pathogenic	Splice acceptor variant
rs1057517695	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057518753	A>G	Pathogenic	Splice acceptor variant
rs1273366435	AGAG>-	Likely-pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (43)

miRTarBase ID	miRNA	Experiments	Reference
MIRT026788	hsa-miR-192-5p	Microarray	19074876
MIRT042634	hsa-miR-423-3p	CLASH	23622248
MIRT643674	hsa-miR-3938	HITS-CLIP	23824327
MIRT643673	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT643672	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT515083	hsa-miR-4438	PAR-CLIP	23446348
MIRT515082	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT515081	hsa-miR-4537	PAR-CLIP	23446348
MIRT515080	hsa-miR-5095	PAR-CLIP	23446348
MIRT515079	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT515078	hsa-miR-619-5p	PAR-CLIP	23446348
MIRT515077	hsa-miR-1228-3p	PAR-CLIP	23446348
MIRT515075	hsa-miR-6765-3p	PAR-CLIP	23446348
MIRT515076	hsa-miR-874-5p	PAR-CLIP	23446348
MIRT515073	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT515074	hsa-miR-4701-5p	PAR-CLIP	23446348
MIRT643674	hsa-miR-3938	HITS-CLIP	23824327
MIRT643673	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT643672	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT515083	hsa-miR-4438	PAR-CLIP	23446348
MIRT515082	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT515081	hsa-miR-4537	PAR-CLIP	23446348
MIRT515080	hsa-miR-5095	PAR-CLIP	23446348
MIRT515079	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT515078	hsa-miR-619-5p	PAR-CLIP	23446348
MIRT515077	hsa-miR-1228-3p	PAR-CLIP	23446348
MIRT515075	hsa-miR-6765-3p	PAR-CLIP	23446348
MIRT515076	hsa-miR-874-5p	PAR-CLIP	23446348
MIRT515073	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT515074	hsa-miR-4701-5p	PAR-CLIP	23446348
MIRT886471	hsa-miR-1243	CLIP-seq
MIRT886472	hsa-miR-1269	CLIP-seq
MIRT886473	hsa-miR-1269b	CLIP-seq
MIRT886474	hsa-miR-1288	CLIP-seq
MIRT886475	hsa-miR-1290	CLIP-seq
MIRT886476	hsa-miR-3167	CLIP-seq
MIRT886477	hsa-miR-34c-3p	CLIP-seq
MIRT886478	hsa-miR-3681	CLIP-seq
MIRT886479	hsa-miR-3942-3p	CLIP-seq
MIRT886480	hsa-miR-4515	CLIP-seq
MIRT886481	hsa-miR-4699-3p	CLIP-seq
MIRT886482	hsa-miR-4740-5p	CLIP-seq
MIRT886483	hsa-miR-876-5p	CLIP-seq

Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IBA
GO:0005813	Component	Centrosome	IDA	28242748, 34259627
GO:0005813	Component	Centrosome	IDA	21399614, 27246242
GO:0005813	Component	Centrosome	IEA
GO:0005814	Component	Centriole	IDA	34259627
GO:0005814	Component	Centriole	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0030317	Process	Flagellated sperm motility	IEA
GO:0030317	Process	Flagellated sperm motility	IMP	36206347, 36756949
GO:0031397	Process	Negative regulation of protein ubiquitination	IDA	28242748, 34259627
GO:0036064	Component	Ciliary basal body	IBA
GO:0036064	Component	Ciliary basal body	IDA	27588451
GO:0042995	Component	Cell projection	IEA
GO:0044782	Process	Cilium organization	IBA
GO:0044782	Process	Cilium organization	IEA
GO:0044782	Process	Cilium organization	IMP	27588451, 34259627
GO:0044782	Process	Cilium organization	ISS
GO:0061512	Process	Protein localization to cilium	IEA
GO:0061512	Process	Protein localization to cilium	ISS
GO:0071539	Process	Protein localization to centrosome	IDA	28242748

MIM	HGNC	e!Ensembl
617110	25740	ENSG00000148019

Q5JTW2

Protein name

Centrosomal protein of 78 kDa (Cep78)

Protein function

Centriole wall protein that localizes to mature centrioles and regulates centriole and cilia biogenesis (PubMed:27246242, PubMed:27588451, PubMed:28242748, PubMed:34259627). Involved in centrosome duplication: required for efficient PLK4 centros

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13516	LRR_6	146 → 169	Leucine Rich repeat	Repeat
PF13516	LRR_6	254 → 277	Leucine Rich repeat	Repeat

Tissue specificity

TISSUE SPECIFICITY: Widely expressed (PubMed:27588451, PubMed:27588452). Expressed in different retinal cell types with higher expression in cone compared to rod cells (at protein level) (PubMed:27588452). {ECO:0000269|PubMed:27588451, ECO:0000269|PubMed:

Sequence

MIDSVKLRRDSAADFFSHYEYLCALQNSVPLPAVRACLREGVLDFNADRLRGVDWAPLLS
TLKINKDLPLVSIKSFFQPWLGDTGSDMNKFCRSRVPAIRYKDVTFQLCKALKGCLSISS
VLKNLELNGLILRERDLTILAKGLNKSASLVHLSLANCPIGDGGLEIICQGIKSSITLKT
VNFTGCNLTWQGADHMAKILKYQTMRRHEETWAESLRYRRPDLDCMAGLRRITLNCNTLI
GDLGACAFADSLSEDLWLRALDLQQCGLTNEGAKALLEALETNTTLVVLDIRKNPLIDHS
MMKAVIKKVLQNGRSAKSEYQWITSPSVKEPSKTAKQKRRTIILGSGHKGKATIRIGLAT
KKPVSSGRKHSLGKEYYAPAPLPPGVSGFLPWRTAERAKRHRGFPLIKTRDICNQLQQPG
FPVTVTVESPSSSEVEEVDDSSESVHEVPEKTSIEQEALQEKLEECLKQLKEERVIRLKV
DKRVSELEHENAQLRNINFSLSEALHAQSLTNMILDDEGVLGSIENSFQKFHAFLDLLKD
AGLGQLATMAGIDQSDFQLLGHPQMTSTVSNPPKEEKKALEDEKPEPKQNALGQMQNIQF
QKITGDARIPLPLDSFPVPVSTPEGLGTSSNNLGVPATEQRQESFEGFIARMCSPSPDAT
SGTGSQRKEEELSRNSRSSSEKKTKTESH

Sequence length

689

Interactions

View interactions

	Reactome
			Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes Loss of proteins required for interphase microtubule organization from the centrosome Recruitment of NuMA to mitotic centrosomes Anchoring of the basal body to the plasma membrane AURKA Activation by TPX2

107

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cone-rod dystrophy	Pathogenic; Likely pathogenic	rs1057517694, rs1057517695, rs1827340429, rs1196886096	RCV001002940 RCV001002939 RCV001199658 RCV001199659
Cone-rod dystrophy and hearing loss	Likely pathogenic; Pathogenic	rs1210581905	RCV003225969
Cone-rod dystrophy and hearing loss 1	Likely pathogenic; Pathogenic	rs1210581905, rs2118460550, rs761661253, rs769767723, rs760484787, rs1306330581, rs2489451154, rs996333495, rs1057517691, rs1057517692, rs1057517693, rs1057517694, rs1057517695, rs745750156, rs1057518753 View all (3 more)	RCV001376465 RCV001523889 RCV001523890 RCV004017881 RCV005860282 RCV005356276 RCV005059115 RCV003222499 RCV000412585 RCV000412668 RCV000412541 RCV000412597 RCV000412648 RCV000412542 RCV000412602 RCV001376466 RCV005001997 RCV001542676
Familial pancreatic carcinoma	Pathogenic	rs745750156	RCV005900651
Retinal dystrophy	Pathogenic; Likely pathogenic	rs2118460550, rs761661253, rs996333495, rs1057517692, rs1826338661, rs776271026, rs1363491382, rs1042726781, rs1363359148, rs1826145876, rs1826148463	RCV004815547 RCV004815548 RCV004818299 RCV004816635 RCV001075680 RCV001075678 RCV001075728 RCV001073975 RCV001073858 RCV001073973 RCV004813870
Sensorineural hearing loss disorder	Pathogenic	rs1057517694, rs1057517695	RCV001002940 RCV001002939

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Conflicting classifications of pathogenicity	rs11137569, rs17064247, rs146563928	RCV005921766 RCV005900060 RCV005902136
CEP78-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance	rs200987172, rs189732612, rs769979435, rs1020634186, rs746861398, rs200483715, rs72743760, rs199743218, rs61730342, rs146563928, rs182452644, rs373976212, rs1314816485, rs775163853	RCV003946058 RCV003948498 RCV003911187 RCV003958571 RCV003981539 RCV003969598 RCV003965609 RCV003908118 RCV003938178 RCV003928294 RCV003955539 RCV004758084 RCV004758149 RCV004758153 RCV004758156
Cervical cancer	Conflicting classifications of pathogenicity	rs146563928	RCV005902139
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	rs146563928	RCV005902140
Colon adenocarcinoma	Conflicting classifications of pathogenicity	rs146563928	RCV005902135
Familial cancer of breast	Benign; Uncertain significance; Conflicting classifications of pathogenicity	rs201810974, rs750594582, rs146563928	RCV005914119 RCV005902133 RCV005902134
Lymphoma	Conflicting classifications of pathogenicity	rs146563928	RCV005902141
Malignant tumor of esophagus	Benign; Conflicting classifications of pathogenicity	rs11137569, rs17064247, rs146563928	RCV005921767 RCV005900061 RCV005902138
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	rs146563928	RCV005902137
Melanoma	Conflicting classifications of pathogenicity	rs146563928	RCV005902144
Moyamoya angiopathy	Conflicting classifications of pathogenicity	rs1314816485	RCV004704506
Optic atrophy	Uncertain significance	rs770673349	RCV004813660
Sarcoma	Benign	rs17064247	RCV005900062
Thymoma	Conflicting classifications of pathogenicity	rs146563928	RCV005902142
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	rs375721961, rs146563928	RCV005902130 RCV005902143
Uterine corpus endometrial carcinoma	Benign; Conflicting classifications of pathogenicity	rs17064247, rs146563928	RCV005900063 RCV005902145

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Carcinoma Squamous Cell	Stimulate	33119552
Ciliopathies	Associate	27627988
Cone Rod Dystrophies	Associate	27588452, 31999394, 34130719, 34259627
Deafness Cataract Retinitis Pigmentosa And Sperm Abnormalities	Associate	31999394
Hearing Loss	Associate	31999394, 34021019, 34259627
Hearing Loss Sensorineural	Associate	27588452, 34223797
Infertility	Associate	31999394
Infertility Male	Associate	31999394
Neoplasms	Associate	33119552
Non Muscle Invasive Bladder Neoplasms	Associate	33119552
Refsum Disease Infantile	Associate	34130719
Retinal Diseases	Associate	34021019
Retinal Dystrophies	Associate	34130719
Urinary Bladder Neoplasms	Associate	33119552
Usher Syndromes	Associate	27588452, 27627988, 31999394

CEP78 (centrosomal protein 78)